Variant report

Variant	rs1870292
Chromosome Location	chr16:30914395-30914396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30912530..30915248-chr16:30945909..30947809,2	K562	blood:
2	chr16:30884479..30890188-chr16:30910598..30915198,10	MCF-7	breast:
3	chr16:30912499..30918732-chr16:30930262..30935475,13	MCF-7	breast:
4	chr16:30668862..30670603-chr16:30912854..30914439,2	MCF-7	breast:
5	chr16:30885099..30888289-chr16:30911609..30917260,6	K562	blood:
6	chr16:30796087..30799228-chr16:30911236..30914996,3	MCF-7	breast:
7	chr16:30786539..30788362-chr16:30912397..30914533,2	MCF-7	breast:
8	chr16:30910564..30915241-chr16:30931582..30935352,8	MCF-7	breast:
9	chr16:30803684..30806177-chr16:30912037..30915319,3	MCF-7	breast:
10	chr16:30815951..30818451-chr16:30913360..30915131,3	MCF-7	breast:
11	chr16:30912902..30918884-chr16:30920570..30924921,9	MCF-7	breast:
12	chr16:30758037..30761391-chr16:30912017..30915043,4	K562	blood:
13	chr16:30913615..30915128-chr16:31190546..31193094,2	K562	blood:
14	chr16:30886090..30888466-chr16:30911609..30914584,5	K562	blood:
15	chr16:30913031..30919294-chr16:30922948..30927916,8	MCF-7	breast:
16	chr16:30789163..30792393-chr16:30910232..30915668,5	K562	blood:
17	chr16:30894706..30896281-chr16:30913366..30915721,2	K562	blood:
18	chr16:30884422..30889769-chr16:30911523..30915041,8	MCF-7	breast:
19	chr16:30876290..30879786-chr16:30913086..30915065,3	MCF-7	breast:
20	chr16:30758037..30760213-chr16:30913543..30915112,2	K562	blood:
21	chr16:30792183..30793764-chr16:30912337..30915253,2	K562	blood:
22	chr16:30912851..30916302-chr16:30932424..30935969,6	K562	blood:
23	chr16:30822842..30825891-chr16:30913265..30916263,3	K562	blood:
24	chr16:30912898..30915035-chr16:30962438..30965039,2	MCF-7	breast:
25	chr16:30912249..30916036-chr16:30924417..30927722,3	K562	blood:
26	chr16:30913321..30915990-chr16:30931581..30936330,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156860	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000230447	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000262026	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12102485	0.80[AFR][1000 genomes]
rs13333418	0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2077633	1.00[MEX][hapmap]
rs28572417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34212827	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4405566	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7184263	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203711	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs73526635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526645	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048593	0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050229	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055067	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061920	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929927	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9940894	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
5	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
6	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
7	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
8	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
11	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
12	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
13	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
14	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
15	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
17	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
18	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
19	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
20	esv3489432	chr16:30912801-30914799	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
21	esv3489433	chr16:30912801-30914799	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30912600-30914600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:30912600-30915800	Flanking Active TSS	Dnd41	blood
3	chr16:30912800-30916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:30913000-30914400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:30913000-30914400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:30913000-30914400	Active TSS	Fetal Lung	lung
7	chr16:30913000-30914800	Active TSS	Brain Germinal Matrix	brain
8	chr16:30913200-30914400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:30913200-30914400	Active TSS	Brain Substantia Nigra	brain
10	chr16:30913200-30914400	Active TSS	Lung	lung
11	chr16:30913200-30914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr16:30913200-30915400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:30913400-30914400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr16:30913400-30914400	Active TSS	Brain Anterior Caudate	brain
15	chr16:30913400-30914400	Active TSS	Colon Smooth Muscle	Colon
16	chr16:30913400-30914400	Weak transcription	Fetal Heart	heart
17	chr16:30913400-30914800	Active TSS	Rectal Smooth Muscle	rectum
18	chr16:30913400-30915800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:30913600-30932800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:30913800-30914400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr16:30913800-30914400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:30913800-30914400	Flanking Active TSS	Fetal Thymus	thymus
23	chr16:30913800-30914600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr16:30913800-30914600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:30913800-30915400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr16:30914000-30914400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:30914000-30914400	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr16:30914000-30914400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:30914000-30914400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:30914000-30914400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:30914000-30914400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr16:30914000-30914400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr16:30914000-30914400	Flanking Active TSS	K562	blood
34	chr16:30914000-30914400	Weak transcription	NHDF-Ad	bronchial
35	chr16:30914000-30914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr16:30914000-30914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:30914000-30914600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr16:30914000-30914600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr16:30914000-30914600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr16:30914000-30914600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr16:30914000-30914600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr16:30914000-30914600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr16:30914000-30914600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr16:30914000-30914600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr16:30914000-30914600	Weak transcription	Small Intestine	intestine
46	chr16:30914000-30914800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:30914000-30914800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr16:30914000-30914800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr16:30914000-30915400	Enhancers	NHEK	skin
50	chr16:30914000-30916200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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